A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595366



Internal ID6982684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14249646..14254595hg38UCSC Ensembl
Innerchr3:14249646..14254595hg38UCSC Ensembl
Outerchr3:14249370..14254890hg38UCSC Ensembl
chr3:14291146..14296095hg19UCSC Ensembl
Innerchr3:14291146..14296095hg19UCSC Ensembl
Outerchr3:14290870..14296390hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10932567, essv10932561, essv10932565, essv10932560, essv10932563, essv10932568, essv10932570, essv10932566, essv10932572, essv10932562, essv10932564, essv10932571, essv10932569
SamplesNA19355, NA19198, NA19159, NA19210, NA19462, NA18912, NA18517, HG03557, HG01912, HG03063, NA19213, HG02051, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595366
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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